Linked Data
ClinVar Variation Id:
209248
dbSNP Id:
rs8176305
gnomAD v2:
17-41201364-T-C
gnomAD v3:
17-43049347-T-C
gnomAD v4:
17-43049347-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049347T>C , CM000679.2:g.43049347T>C | GRCh38 |
| NC_000017.10:g.41201364T>C , CM000679.1:g.41201364T>C | GRCh37 |
| NC_000017.9:g.38454890T>C | NCBI36 |
| NG_005905.2:g.168637A>G , LRG_292:g.168637A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5330-153A>G | ENSP00000417241.2:n.5330-153A>G | |
| ENST00000470026.6:c.5333-153A>G | ENSP00000419274.2:n.5333-153A>G | |
| ENST00000473961.6:c.5207-153A>G | ENSP00000420201.2:n.5207-153A>G | |
| ENST00000476777.6:c.5327-153A>G | ENSP00000417554.2:n.5327-153A>G | |
| ENST00000477152.6:c.5255-153A>G | ENSP00000419988.2:n.5255-153A>G | |
| ENST00000478531.6:c.2021-153A>G | ENSP00000420412.2:n.2021-153A>G | |
| ENST00000489037.2:c.5255-153A>G | ENSP00000420781.2:n.5255-153A>G | |
| ENST00000493919.6:c.1883-153A>G | ENSP00000418819.2:n.1883-153A>G | |
| ENST00000494123.6:c.5333-153A>G | ENSP00000419103.2:n.5333-153A>G | |
| ENST00000497488.2:c.4445-153A>G | ENSP00000418986.2:n.4445-153A>G | |
| ENST00000618469.2:c.5333-153A>G | ENSP00000478114.2:n.5333-153A>G | |
| ENST00000634433.2:c.5210-153A>G | ENSP00000489431.2:n.5210-153A>G | |
| ENST00000644379.2:c.5399-153A>G | ENSP00000496570.2:n.5399-153A>G | |
| ENST00000644555.2:c.1883-153A>G | ENSP00000494614.2:n.1883-153A>G | |
| ENST00000652672.2:c.5192-153A>G | ENSP00000498906.2:n.5192-153A>G | |
| ENST00000484087.6:c.1895-153A>G | ENSP00000419481.2:n.1895-153A>G | |
| ENST00000700081.1:n.1063A>G | ||
| ENST00000357654.9:c.5333-153A>G MANE Select | ENSP00000350283.3:n.5333-153A>G | |
| ENST00000471181.7:c.5396-153A>G | ENSP00000418960.2:n.5396-153A>G | |
| ENST00000644379.1:c.1720-153A>G | ||
| ENST00000352993.7:c.1907-153A>G | ENSP00000312236.5:n.1907-153A>G | |
| ENST00000357654.7:c.5333-153A>G | ENSP00000350283.3:n.5333-153A>G | |
| ENST00000461221.5:c.*5116-153A>G | ENSP00000418548.1:n.*5116-153A>G | |
| ENST00000468300.5:c.2021-1644A>G | ENSP00000417148.1:n.2021-1644A>G | |
| ENST00000471181.6:c.5396-153A>G | ENSP00000418960.2:n.5396-153A>G | |
| ENST00000491747.6:c.2021-153A>G | ENSP00000420705.2:n.2021-153A>G | |
| ENST00000493795.5:c.5192-153A>G | ENSP00000418775.1:n.5192-153A>G | |
| ENST00000586385.5:c.263-153A>G | ENSP00000465818.1:n.263-153A>G | |
| ENST00000591534.5:c.806-153A>G | ENSP00000467329.1:n.806-153A>G | |
| ENST00000591849.5:c.32-153A>G | ENSP00000465347.1:n.32-153A>G | |
| NM_007294.3:c.5333-153A>G , LRG_292t1:c.5333-153A>G | NP_009225.1:n.5333-153A>G | |
| NM_007297.3:c.5192-153A>G | NP_009228.2:n.5192-153A>G | |
| NM_007298.3:c.2021-153A>G | NP_009229.2:n.2021-153A>G | |
| NM_007299.3:c.2021-1644A>G | NP_009230.2:n.2021-1644A>G | |
| NM_007300.3:c.5396-153A>G | NP_009231.2:n.5396-153A>G | |
| NR_027676.1:n.5469-153A>G | ||
| NM_007294.4:c.5333-153A>G MANE Select | NP_009225.1:n.5333-153A>G | |
| NM_007297.4:c.5192-153A>G | NP_009228.2:n.5192-153A>G | |
| NM_007299.4:c.2021-1644A>G | NP_009230.2:n.2021-1644A>G | |
| NM_007300.4:c.5396-153A>G | NP_009231.2:n.5396-153A>G | |
| NR_027676.2:n.5510-153A>G |